Y chromosome infertility

Description

Y chromosome infertility is a condition that affects the production of sperm and causes
male infertility, which means it is difficult or impossible for affected men to father
children. An affected man's body may produce no mature sperm cells (azoospermia),
fewer than the usual number of sperm cells (oligospermia), or sperm cells that are
abnormally shaped or that do not move properly. Men with Y chromosome infertility do
not have any other signs or symptoms related to the condition.

Some men with Y chromosome infertility who have mild to moderate oligospermia may
eventually father a child naturally. Men with oligospermia may also be helped with
assisted reproductive technologies; most men with Y chromosome infertility have some
sperm cells in the testes that can be extracted for this purpose.

Frequency

Y chromosome infertility occurs in approximately 1 in 2,000 to 1 in 3,000 males of all

ethnic groups. This condition accounts for about 13 percent of cases of azoospermia
and 5 percent of severe oligospermia.

Causes

As its name suggests, this form of infertility is caused by changes in the Y chromosome.
People normally have 46 chromosomes in each cell. Two of the 46 chromosomes are
sex chromosomes, called X and Y. Females have two X chromosomes (46,XX), and
males have one X chromosome and one Y chromosome (46,XY).

Many genes on the Y chromosome are involved in male sex determination and
development. In particular, genes in areas of the Y chromosome called azoospermia
factor (AZF) regions provide instructions for making proteins that are involved in sperm
cell production and development, although the specific functions of these proteins are
not well understood.

Y chromosome infertility is caused by deletions of genes in the AZF regions. These

deletions remove several genes, or in rare cases, a single gene. Loss of this genetic
material likely prevents the production of one or more proteins needed for normal sperm
cell development. As a result, either few sperm develop or sperm do not develop at all,
leading to Y chromosome infertility.

Reprinted from MedlinePlus Genetics (https://medlineplus.gov/genetics/) 1

Learn more about the chromosome associated with Y chromosome infertility
• y chromosome

Additional Information from NCBI Gene:

• CDY1
• DAZ1
• DAZ2
• DAZ3
• DAZ4
• DDX3Y
• HSFY1
• HSFY2
• KDM5D
• PRY
• RBMY1A1
• RPS4Y2
• TSPY1
• USP9Y
• VCY

Inheritance

Because Y chromosome infertility impedes the ability to father children, this condition is
usually not inherited. Most cases of this condition result from new (de novo) deletions
on the Y chromosome that occur during formation of sperm cells in an affected
individual's father who is not himself infertile. These cases occur in men with no history
of the disorder in their family.

When men with Y chromosome infertility do father children, either naturally or with the
aid of assisted reproductive technologies, they pass the genetic changes on the Y
chromosome to all their sons. As a result, the sons will also have Y chromosome
infertility. This form of inheritance is called Y-linked. Daughters do not inherit the Y
chromosome and are not affected.

Other Names for This Condition

• Spermatogenic failure, Y-linked
• Y chromosome-related azoospermia

Reprinted from MedlinePlus Genetics (https://medlineplus.gov/genetics/) 2

Additional Information & Resources

Genetic Testing Information

• Genetic Testing Registry: Spermatogenic failure, Y-linked 2 (https://www.ncbi.nlm.ni
h.gov/gtr/conditions/C1839071/)
• Genetic Testing Registry: Spermatogenic failure, Y-linked, 1 (https://www.ncbi.nlm.n
ih.gov/gtr/conditions/C4551960/)

Genetic and Rare Diseases Information Center

• Y chromosome infertility (https://rarediseases.info.nih.gov/diseases/185/y-chromoso
me-infertility)

Patient Support and Advocacy Resources

• Disease InfoSearch (https://www.diseaseinfosearch.org/)
• National Organization for Rare Disorders (NORD) (https://rarediseases.org/)

Research Studies from ClinicalTrials.gov

• ClinicalTrials.gov (https://clinicaltrials.gov/ct2/results?cond=%22Infertility%2C+Male
%22+OR+%22Y+chromosome+infertility%22)

Catalog of Genes and Diseases from OMIM

• SPERMATOGENIC FAILURE, Y-LINKED, 1 (https://omim.org/entry/400042)
• SPERMATOGENIC FAILURE, Y-LINKED, 2 (https://omim.org/entry/415000)

Scientific Articles on PubMed

• PubMed (https://pubmed.ncbi.nlm.nih.gov/?term=%28%28y+chromosome%5BTIAB
%5D%29+AND+%28infertility%5BTIAB%5D%29+AND+%28AZF%29%29+AND+en
glish%5Bla%5D+AND+human%5Bmh%5D)

References
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s://pubmed.ncbi.nlm.nih.gov/21385475)
• Fan Y, Silber SJ. Y Chromosome Infertility. 2002 Oct 31 [updated 2019 Aug 1].In:
Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW,

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Jorgensen N, Skakkebaek NE, Andersen AN, Rajpert-De Meyts E. Sons conceived
byassisted reproduction techniques inherit deletions in the azoospermia factor(AZF)
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Last updated January 1, 2019

Reprinted from MedlinePlus Genetics (https://medlineplus.gov/genetics/) 4